Rhombencephalosynapsis: Fused cerebellum, confused geneticists.
Aldinger KA, Dempsey JC, Tully HM, Grout ME, Mehaffey MG, Dobyns WB, Doherty D.
Aldinger KA, et al.
Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):432-439. doi: 10.1002/ajmg.c.31666.
Am J Med Genet C Semin Med Genet. 2018.
PMID: 30580482
Free PMC article.
Review.
Subsets of patients also have other brain malformations such as midbrain fusion with aqueductal stenosis, characteristic craniofacial features (prominent forehead, flat midface, hypertelorism, ear abnormalities), and somatic malformations (heart, kidney, spine, and …
Subsets of patients also have other brain malformations such as midbrain fusion with aqueductal stenosis, characteristic craniofacial featur …